The amazing journey of a brave, fun-loving, creative boy who is enduring and has overcome so much already: failure to thrive, feeding tube dependency, food allergies, silent reflux, pulmonary valvar stenosis, chiari malformation, syringomyelia, retroflexed odontoid, mild bilateral hearing loss, a blood coagulation disorder, and Noonan Syndrome.
Showing posts with label Alagille Syndrome. Show all posts
Showing posts with label Alagille Syndrome. Show all posts
Friday, December 3, 2010
Results: Eye Exam
Auggie had an eye exam yesterday to check for posterior embryotoxon - he does not have it. This is great news - it just about rules out Alagille Syndrome. That's a relief.
Friday, September 10, 2010
New Tests: Eye Exam
The geneticist would like Auggie to have an eye exam to rule out posterior embryotoxon which is an eye condition associated with Alagille Syndrome. The doctor thinks it's unlikely that he has this condition since it usually also is associated with liver problems and Auggie's liver is fine, but they want to rule it out. Apparently the chromosome abnormality with this disease is at the G-level and will not show up on the chromosomal tabulation (we expect those results in 3 weeks).
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